Table 1.
Summary of HNF1B mutations
| GRCh37 | Evidence | Reference | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Carrier ID | coordinates | Nucleotide change | Protein change | Classification | PVS | PS | PM | PP | |
| 9,15,19,22,28,31,34,36 | ‐ | Whole‐gene deletion | Whole‐gene deletion | pathogenic | 1 | 4 | |||
| 25 | 17:36099540 T/‐ | NM_000458.2 c.434delT | NP_000449.1 p.Leu145Pro_fs_delT | pathogenic | 1 | 2 | 3 | ||
| 10 | 17:36099532 C/T | NM_000458.2 c.443C>T | NP_000449.1 p.Ser148Leu | pathogenic | 1,2 | 2 | 2,3 | 7, 18 | |
| 2 | 17:36093617 C/T | NM_000458.2 c.742C>T | NP_000449.1 p.Gln248Ter | pathogenic | 1 | 1 | 2 | 1 | 8 |
| 16 | 17:36091774 T/G | NM_000458.2 c.857T>G | NP_000449.1 p.Leu286Arg | pathogenic | 2 | 1,2,5 | 2,3 | 22 | |
| 8,20 | 17:36091748 C/T | NM_000458.2 c.883C>T | NP_000449.1:p.Arg295Cys | pathogenic | 1,2 | 1,2,5 | 2,3 | 21, 23 | |
| 30 | 17:36093604 G/A | NM_000458.2 c.755G>A | NP_000449.1 p.Arg252Gln | uncertain | 1 | 2,3,5 | |||
Note: All variants were assessed according to the criteria issued by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Briefly, 14 of 15 discovered variants in HNF1B were classified as pathogenic, with whole‐gene deletions constituting about half of the findings. PVS‐very strong evidence of pathogenicity; PS‐strong evidence; PM‐moderate; PP‐supportive. Numbers indicate specific ACMG criteria.13